D 19: WP 4, 5, 6 August 2010

European survey: facilities for patients

with rare and very rare anaemias

Name:
Job Title:
Institution:
Department:
Address:
Zip code:
City:
Country:
Phone Number:
Fax No.:
Website:

SECTION 1 – FACILITIES FOR SICKLE CELL DISORDERS AND THALASSAEMIAS

Not concerned by this part of the questionnaire

With regard to sickle cell disorders and thalassaemias, do you consider your centre to be:

A reference centre

A general centre

In your country, do reference centres exist (either within a framework of a national policy on rare diseases, or outside national policy)?

Yes for haemoglobinopathies

Yes for very rare anaemias, please specify: ……………………………

No

Is your centre part of a rare disease national network?

Yes

No

Type of patients followed (please tick all that apply):

Children to age 18

Adults

Children and adults

Out-patients

In-patients

Out- and in-patients

Patients from your City or Region only

Patients from your country

Patients from other countries (please specify)

Clinic: Average number of patients followed annually:

children ______/ year

adults ______/ year

Total Registered patients: Sickle Cell Syndromes: ______

Thalassaemia Syndromes:______

Diagnosis centres: Average number of specimen received:

For care______/ year

For advice ______/ year (confirmation or final diagnosis after first line tests obtained in another centre)

Phenotype ______/ year

Genotype ______/ year

THE EXPERTISE COVERED IN YOUR CENTRE

(Please tick all that apply)

The areas of expertise not covered in our centre are available in other expert centres

A close collaboration exists with those centres

No collaboration exists with other centres

1.Diagnosis – prevention

Phenotypic diagnosis of Haemoglobin Disorders

Genotypic diagnosis of Haemoglobin Disorders

Neonatal screening

Local

National

Report minor haemoglobinopathies

Antenatal screening

Pre-marital screening

Local

National

Genetic counselling

Pre-natal diagnosis

Pre-implantation diagnosis

Participation to an external quality control (QC)

  • Phenotype, name of the external QC: ……………………………….
  • Genotype, name of the external QC: ……………………………….
  1. Follow-up/case management

Acute events - Special services in your centre

Does the centre have staff with specific expertise in dealing with acute events of Haemoglobin disorders (e.g. pain control, stroke)?

Yes

No

Allocated beds:

Day unit

Hospital

Day unit and hospital

Trained, dedicated staff:

Nurses

Medical doctors

Psychologist

Neurosurgical unit

Imaging staff

Blood transfusions:

Do you perform an extended immuno-phenotype (beyond ABO and D)?

Yes

No

Do you have access to donor red blood cell units with rare phenotypes

Yes

No

Do you have:

Access to exchange blood transfusion (trained staff)

24-hour service

  1. Follow-up/case management

Chronic events – special services in your centre

Does the centre have staff experienced in monitoring, preventing and dealing with chronic complications of Haemoglobin disorders?

Yes

No

Please tick the areas of case monitoring/follow-up that are offered by your centre (for early/timely detection of the following):

Chronic pain

Stroke (prevention), please give an example ______

Stroke (care)

Leg ulcer

Osteonecrosis

Bone disease (e.g. osteoporosis)

Chronic renal disease

Pulmonary disease please give an example ______

Cardiac disease

Eye complications

Hearing complications

Liver complications

Growth

Endocrine complications

Pregnancy

Contraception - fertility

Iron overload please give an example………………………………………

Psychological support

Are patients monitored by specialists in:

Cardiology?

Liver disorders?

Endocrinology?

Other? (please specify)………………………………………………………

CRITERIA OF EXPERTISE IN YOUR CENTRE

  1. Availability of specialised services, able to deal with SCD/thalassaemia complications (please tick all that apply):

Intensive care unit

Trained in sickle-related organ damage and multiple organ damage

Transcranial echo-doppler

MRI

Angio MRI

CT

Angiofluorography

Audiometry

Assessment of cardiac iron by T2* MRI

Measurement of liver iron concentration:

Biopsy

MRI

SQUID

  1. Availability of treatments:

Stem cell transplantation

Hydroxyurea

Iron chelation

Transfusions

With rare blood phenotype

Blood bank

Exchange transfusion

Automated

Manual

  1. Availability of patient services:

Psychology services

Link with education services (i.e. coordinating with school for educational problems)

Link with other social services (e.g. employment, social security)

Link with patients’ associations

  1. Availability of decision support (guidelines)

Available electronically for patients

Available electronically for health professionals

Available in booklet form for patients

Available in booklet form for health professionals

Standard follow-up of patients with very rare anaemias

Children

Adults

Management of chronic pain

Management of chronic complications

Acute blood transfusions management

Chronic blood transfusions management

Management of pregnancy

Pre- and peri-operative surgery management

Criteria for hospitalisation

Diagnosis of complications

Treatment of complications

Pain management

  1. Availability of registries:

Epidemiological surveillance

Long term follow up for clinical care and decision making

Collection of material for research and teaching

Clinical research

  1. Link with research:

Yes

Occasional

No

  1. High level of expertise and experience documented:

Through publications

Grants

Teaching and training activities

SECTION 2 – FACILITIES FOR VERY RARE ANAEMIAS:

Not concerned by this part of the questionnaire

Or by:

Red blood cell membrane disorders

Red blood cell enzyme disorders

Congenital Dyserythropoietic Anaemia (CDA)

Diamond Blackfan Anaemia (DBA)

Paroxysmal Nocturnal Haemoglobinuria (PNH)

Hereditary Sideroblastic Anaemia (HSA)

Very rare anaemias due to defective iron utilization

With regard to very rare anaemias, do you consider your centre to be:

A reference centre

A general centre

In your country, do reference centres exist (either within a framework of a national policy on rare diseases, or outside national policy)?

Yes

No

Is your centre part of a rare disease national network?

Yes

No

Type of patients followed (please tick all that apply):

Children to age 18

Adults

Children and adults

Out-patients

In-patients

Out- and in-patients

Patients from your City or Region only

Patients from your country

Patients from other countries (please specify)

Clinic: Average number of patients followed annually:

children ______/ year

adults ______/ year

Total registered patients with:

Red blood cell membrane disorders: ______

Red blood cell enzyme disorders: ______

CDA: ______

DBA: ______

PNH: ______

HSA: ______

Very rare anaemias due to defective iron utilization: ______

Other Anaemias (please specify): ______

Diagnosis centres: Average number of specimen received:

For care______/ year

For advice ______/ year (confirmation or final diagnosis after first line tests obtained in another centre)

Phenotype ______/ year

Genotype ______/ year

THE EXPERTISE COVERED IN YOUR CENTRE

(Please tick all that apply)

The areas of expertise not covered in our centre are available in other expert centres

A close collaboration exists with those centres

No collaboration exists with other centres

4.Diagnosis – prevention

Genetic counselling, please specify……………………………………………

Pre-natal diagnosis, please specify……………………………………………

Pre-implantation diagnosis, please specify…………………………………..

Participation to an external quality control (QC)

  • Phenotype, name of the external QC: ……………………………….
  • Genotype, name of the external QC: ……………………………….
  1. Follow-up/case management

Acute events - Special services in your centre

Does the centre have staff with specific expertise in dealing with acute events of very rare anaemias (e.g. consequences of iron overload, haemolytic crises, aplastic crises)?

Yes

No

Allocated beds:

Day unit

Hospital

Day unit and hospital

Trained, dedicated staff:

Nurses

Medical doctors

Psychologist

Imaging staff

Blood transfusions:

Do you perform an extended immuno-phenotype (beyond ABO and D)?

Yes

No

Do you have access to donor red blood cell units with rare phenotypes

Yes

No

Do you have:

Access to exchange blood transfusion (trained staff)

24-hour service

  1. Follow-up/case management

Chronic events – special services in your centre

Does the centre have staff experienced in monitoring, preventing and dealing with chronic complications of very rare anaemias?

Yes

No

Please tick the areas of case monitoring/follow-up that are offered by your centre:

Leg ulcer

Osteonecrosis

Bone disease (e.g. osteoporosis)

Chronic renal disease

Pulmonary disease

Cardiac disease

Eye complications

Hearing complications

Liver complications

Growth

Endocrine complications

Pregnancy

Contraception - fertility

Iron overload, please give an example……………………………………

Psychological support

Other, please specify

Are patients monitored by specialists in:

Cardiology?

Liver disorders?

Endocrinology?

Other? (please specify) ………………………………………………………

CRITERIA OF EXPERTISE IN YOUR CENTRE

  1. Availability of specialised services, able to deal with complications of very rare anaemias (please tick all that apply):

Intensive care unit

MRI

CT

Audiometry

Assessment of cardiac iron by T2* MRI

Measurement of liver iron concentration:

Biopsy

MRI

SQUID

  1. Availability of treatments:

Stem cell transplantation

Iron chelation

Phlebotomy

Transfusions

With rare blood phenotype

Exchange transfusion

Automated

Manual

  1. Availability of patient services:

Psychology services

Link with education services (i.e. coordinating with school for educational problems)

Link with other social services (e.g. employment, social security)

Link with patients’ associations

  1. Availability of decision support (guidelines)

Available electronically for patients

Available electronically for health professionals

Available in booklet form for patients

Available in booklet form for health professionals

Standard follow-up of patients with very rare anaemias

Children

Adults

Management of chronic pain

Management of chronic complications

Acute blood transfusions management

Chronic blood transfusions management

Management of pregnancy

Pre- and peri-operative surgery management

Criteria for hospitalisation

Diagnosis of complications

Treatment of complications

Pain management

  1. Availability of registries:

Epidemiological surveillance

Long term follow up for clinical care and decision making

Collection of material for research and teaching

Clinical research

  1. Link with research:

Yes

Occasional

No

  1. High level of expertise and experience documented:

Through publications

Grants

Teaching and training activities

For the two sections, free additional comments:

The completed survey can be faxed: 02/555 66 55 or sent by e-mail:

Thank you very much for your collaboration.

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